Prevalence of cardiovascular manifestations in patients with hypermobile Ehlers‐Danlos syndrome at the University of Miami

Abstract

Cardiovascular system involvements have been frequently reported in hypermobile Ehlers‐Danlos Syndrome (hEDS). Mitral valve prolapse (MVP) and aortic root dilatation are included in the 2017 international classification criteria for hEDS. Different studies have found conflicting results regarding the significance of cardiac involvement in hEDS patients. We conducted a retrospective review of cardiac involvement in patients diagnosed with hEDS based on the 2017 International diagnostic criteria to provide further evidence toward more defined and reliable diagnostic criteria and recommended cardiac surveillance. A total of 75 hEDS patients with at least one diagnostic cardiac evaluation were included in the study. The most common reported cardiovascular complaints were lightheadedness (80.6%), followed by palpitations (77.6%), fainting (44.8%), and chest pain (32.8%). Of the 62 echocardiogram reports, 57 (91.9%) showed trace/trivial to mild valvular insufficiency, and 13 (21%) had additional abnormalities such as grade I diastolic dysfunction, mild aortic sclerosis, and trivial or small pericardial effusion. Of the 60 electrocardiograms (ECG) reports, 39 (65%) were normal, and 21 (35%) reported minor abnormalities or normal variants. Even though many hEDS patients in our cohort experienced cardiac symptoms, the presence of a significant cardiac abnormality was very low.

Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers‐Danlos syndrome: A retrospective cross‐sectional study from an Italian reference center

“…Additionally, we propose that specific signs and symptoms should carry higher diagnostic importance compared to others. Based on the prevalence of observed signs and symptoms in our cohort, along with cluster analysis and review of relevant literature (Aubry-Rozier et al, 2021;Copetti et al, 2019;Demmler et al, 2019;Gensemer et al, 2021;Kumskova et al, 2023;Malfait et al, 2020;Martinez et al, 2021;McGillis et al, 2020;Morlino et al, 2019;Pietri-Toro et al, 2023;Rashed et al, 2022;Robbins, 2022;Scicluna et al, 2021;Yew et al, 2021) in the updated feature A, along with at least one musculoskeletal manifestation from the current feature C, which can remain unchanged.…”

“…Additionally, we propose that specific signs and symptoms should carry higher diagnostic importance compared to others. Based on the prevalence of observed signs and symptoms in our cohort, along with cluster analysis and review of relevant literature (Aubry‐Rozier et al, 2021; Copetti et al, 2019; Demmler et al, 2019; Gensemer et al, 2021; Kumskova et al, 2023; Malfait et al, 2020; Martinez et al, 2021; McGillis et al, 2020; Morlino et al, 2019; Pietri‐Toro et al, 2023; Rashed et al, 2022; Robbins, 2022; Scicluna et al, 2021; Yew et al, 2021), we suggest assigning a diagnostic value of two points to the following items: unusually soft or velvety skin; atypical striae distensae/rubrae; mild skin hyperextensibility in at least three sites; easy bruising; capillary fragility, recurrent epistaxis and/or gingival bleedings; dental crowding and high or narrow palate; genua valga, cubita valga and/or halluces valgi; spine curvature anomalies (scoliosis/kyphosis/lordosis); and temporomandibular joint dysfunction. On the other hand, abnormal atrophic scarring; bilateral pathogenic piezogenic papules of the heels; recurrent or multiple abdominal hernia(s); bilateral pes planus/pes planovalgus; non‐postmenopausal osteopenia (early in men); early osteoarthritis; disc hernias/protrusions; spondylolisthesis; arachnodactyly; recurrent soft‐tissue rheumatisms; recurrent myalgias and cramps; MVP; Raynaud's phenomenon, acrocyanosis, and/or livedo reticularis; pelvic floor, rectal, and/or uterine prolapse; and meno/metrorrhagias and/or disabling dysmenorrhea, should be assigned a diagnostic value of 1 point.…”

“…However, shortly after the updated diagnostic criteria were introduced, several authors raised concerns about their limits, since they neither effectively recognize the more severely affected patients nor account for the numerous extra‐musculoskeletal manifestations of hEDS (Aubry‐Rozier et al, 2021; Castori, 2021; Copetti et al, 2019; Hakim, 2019; Hakim et al, 2021; Martinez et al, 2021; Morlino et al, 2019; Williams, 2019; Yew et al, 2021). These associated conditions are nowadays recognized, with varying levels of evidence, as JHM‐associated comorbidities and include chronic fatigue, pelvic floor problems, bladder dysfunction, various dysautonomic features (e.g., orthostatic decompensation, unstable cardiac rhythms and rates, postural orthostatic tachycardia syndrome [POTS], and gastrointestinal dysfunction), neurological involvement, behavioral disturbances, psychological distress, and immune system alterations such as mast cell disorders (Atwell et al, 2021; Brock et al, 2021; Castori et al, 2017; Celletti et al, 2020; Fernandez et al, 2022; Lam et al, 2021; Malfait et al, 2017; Malfait et al, 2020; Mathias et al, 2021; Pietri‐Toro et al, 2023; Rashed et al, 2022; Ruiz Maya et al, 2021; Thwaites et al, 2022; Tinkle et al, 2017; Vermeulen et al, 2022; Wasim et al, 2019). These comorbidities are common not only in hEDS but also in HSD, although their exact incidence has not been extensively documented thus far.…”